Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.P393R
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SERPINA1

NM_000295.5:p.P393R

Associated Papers

Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.

Matamala N et al.

Respiratory Research, 2026

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Belkadi A et al.

Cell Genomics, 2023

36777185 (PubMed )
Supplement: mmc5.xlsx › Table_S4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."